Diagnosis of DiGeorge and Williams syndromes using FISH analysis of peripheral blood smears

A. Novelli, M. Sabani, A. Caiola, M. C. Digilio, A. Giannotti, R. Mingarelli, G. Novelli, B. Dallapiccola

Research output: Contribution to journalArticlepeer-review

Abstract

We describe the use of a FISH protocol for detecting chromosome microdeletions in peripheral blood smear leukocytes. This method has the advantage of a smaller sample requirement than classical metaphase chromosome analysis and the potential for analysis of a larger number of chromosome microdeletions using a routine blood smear. A selected series of 10 DiGeorge syndrome (DGS) and 12 Williams-Beuren syndrome (WBS) patients were correctly diagnosed by this method confirming results obtained by molecular cytogenetic metaphases. These results support effectiveness of interphase FISH analysis on peripheral blood smears as a focused, single-step method for the detection of chromosome microdeletions.

Original languageEnglish
Pages (from-to)303-307
Number of pages5
JournalMolecular and Cellular Probes
Volume13
Issue number4
DOIs
Publication statusPublished - Aug 1999

Keywords

  • Chromosome microdeletion
  • DiGeorge syndrome
  • FISH
  • Williams-Beuren syndrome

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology

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